Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Detalhes bibliográficos
Autor(a) principal: GIUGLIANI, Roberto
Data de Publicação: 2010
Outros Autores: FEDERHEN, Andressa, MUÑOZ ROJAS, Maria Verónica, VIEIRA, Taiane Alves, ARTIGALÁS, Osvaldo Alfonso Pinto, PINTO, Louise Lapagesse de Carmargo, AZEVEDO, Ana Cecília Medeiros Mano, ACOSTA, Angelina Xavier, BONFIM, Carmem Maria Sales, LOURENÇO, Charles Marques, KIM, Chong Ae, HOROVITZ, Denize Bonfim, NORATO, Denise Yvonne Janovitz, MARINHO, Diane Ruschel, PALHARES, Durval Batista, SANTOS, Emerson Santana, RIBEIRO, Erlane Marques, VALADARES, Eugênia Ribeiro, GUARANY, Fábio Coelho, LUCCA, Gisele Rosone de, PIMENTEL, Helena, SOUZA, Isabel Cristina Neves de, CORRÊA NETO, Jordão, FRAGA, José Carlos, GÓES, José Eduardo Coutinho, CABRAL, José Maria, SIMIONATO, José, LLERENA JUNIOR, Juan Clinton, JARDIM, Laura Bannach, GIULIANI, Liane de Rosso, SILVA, Luiz Carlos Santana da, SANTOS, Mara Lucia Schmitz Ferreira, MOREIRA, Maria Ângela, KERSTENETZKY, Marcelo Soares, RIBEIRO, Márcia Gonçalves, GUARANY, Nicole Ruas, BARRIOS, Patricia Martins Moura, ARANDA, Paulo Cesar, HONJO, Rachel Sayuri, SILVA, Raquel Tavares Boy da, COSTA, Ronaldo, SOUZA, Carolina Fischinger Moura de, ALCANTARA, Flavio Ferraz de Paes e, AVILLA, Sylvio Gilberto Andrade, FAGONDES, Simone Chaves, MARTINS, Ana Maria
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFPA
Texto Completo: http://repositorio.ufpa.br/jspui/handle/2011/5137
Resumo: Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
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spelling 2014-06-25T13:30:35Z2014-06-25T13:30:35Z2010GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, São Paulo, v. 33, n. 4, p. 589-604, 2010. Disponível em: <http://www.scielo.br/pdf/gmb/v33n4/2010-050.pdf>. Acesso em: 17 fev. 2014. <http://dx.doi.org/10.1590/S1415-47572010005000093>.1415-4757http://repositorio.ufpa.br/jspui/handle/2011/5137Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.Submitted by Edisangela Bastos (edisangela@ufpa.br) on 2014-06-24T18:41:08Z No. of bitstreams: 2 license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Artigo_MucopolysaccharidosisBriefReview.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5)Approved for entry into archive by Albirene Aires (albireneufpa@gmail.com) on 2014-06-25T13:30:35Z (GMT) No. of bitstreams: 2 license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Artigo_MucopolysaccharidosisBriefReview.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5)Made available in DSpace on 2014-06-25T13:30:35Z (GMT). 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dc.title.pt_BR.fl_str_mv Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
title Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
spellingShingle Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
GIUGLIANI, Roberto
Mucopolissacaridoses
Síndrome de Hurler
Síndrome de Hunter
Síndrome de Maroteaux-Lamy
Terapia de reposição enzimática
title_short Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
title_full Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
title_fullStr Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
title_full_unstemmed Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
title_sort Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
author GIUGLIANI, Roberto
author_facet GIUGLIANI, Roberto
FEDERHEN, Andressa
MUÑOZ ROJAS, Maria Verónica
VIEIRA, Taiane Alves
ARTIGALÁS, Osvaldo Alfonso Pinto
PINTO, Louise Lapagesse de Carmargo
AZEVEDO, Ana Cecília Medeiros Mano
ACOSTA, Angelina Xavier
BONFIM, Carmem Maria Sales
LOURENÇO, Charles Marques
KIM, Chong Ae
HOROVITZ, Denize Bonfim
NORATO, Denise Yvonne Janovitz
MARINHO, Diane Ruschel
PALHARES, Durval Batista
SANTOS, Emerson Santana
RIBEIRO, Erlane Marques
VALADARES, Eugênia Ribeiro
GUARANY, Fábio Coelho
LUCCA, Gisele Rosone de
PIMENTEL, Helena
SOUZA, Isabel Cristina Neves de
CORRÊA NETO, Jordão
FRAGA, José Carlos
GÓES, José Eduardo Coutinho
CABRAL, José Maria
SIMIONATO, José
LLERENA JUNIOR, Juan Clinton
JARDIM, Laura Bannach
GIULIANI, Liane de Rosso
SILVA, Luiz Carlos Santana da
SANTOS, Mara Lucia Schmitz Ferreira
MOREIRA, Maria Ângela
KERSTENETZKY, Marcelo Soares
RIBEIRO, Márcia Gonçalves
GUARANY, Nicole Ruas
BARRIOS, Patricia Martins Moura
ARANDA, Paulo Cesar
HONJO, Rachel Sayuri
SILVA, Raquel Tavares Boy da
COSTA, Ronaldo
SOUZA, Carolina Fischinger Moura de
ALCANTARA, Flavio Ferraz de Paes e
AVILLA, Sylvio Gilberto Andrade
FAGONDES, Simone Chaves
MARTINS, Ana Maria
author_role author
author2 FEDERHEN, Andressa
MUÑOZ ROJAS, Maria Verónica
VIEIRA, Taiane Alves
ARTIGALÁS, Osvaldo Alfonso Pinto
PINTO, Louise Lapagesse de Carmargo
AZEVEDO, Ana Cecília Medeiros Mano
ACOSTA, Angelina Xavier
BONFIM, Carmem Maria Sales
LOURENÇO, Charles Marques
KIM, Chong Ae
HOROVITZ, Denize Bonfim
NORATO, Denise Yvonne Janovitz
MARINHO, Diane Ruschel
PALHARES, Durval Batista
SANTOS, Emerson Santana
RIBEIRO, Erlane Marques
VALADARES, Eugênia Ribeiro
GUARANY, Fábio Coelho
LUCCA, Gisele Rosone de
PIMENTEL, Helena
SOUZA, Isabel Cristina Neves de
CORRÊA NETO, Jordão
FRAGA, José Carlos
GÓES, José Eduardo Coutinho
CABRAL, José Maria
SIMIONATO, José
LLERENA JUNIOR, Juan Clinton
JARDIM, Laura Bannach
GIULIANI, Liane de Rosso
SILVA, Luiz Carlos Santana da
SANTOS, Mara Lucia Schmitz Ferreira
MOREIRA, Maria Ângela
KERSTENETZKY, Marcelo Soares
RIBEIRO, Márcia Gonçalves
GUARANY, Nicole Ruas
BARRIOS, Patricia Martins Moura
ARANDA, Paulo Cesar
HONJO, Rachel Sayuri
SILVA, Raquel Tavares Boy da
COSTA, Ronaldo
SOUZA, Carolina Fischinger Moura de
ALCANTARA, Flavio Ferraz de Paes e
AVILLA, Sylvio Gilberto Andrade
FAGONDES, Simone Chaves
MARTINS, Ana Maria
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv GIUGLIANI, Roberto
FEDERHEN, Andressa
MUÑOZ ROJAS, Maria Verónica
VIEIRA, Taiane Alves
ARTIGALÁS, Osvaldo Alfonso Pinto
PINTO, Louise Lapagesse de Carmargo
AZEVEDO, Ana Cecília Medeiros Mano
ACOSTA, Angelina Xavier
BONFIM, Carmem Maria Sales
LOURENÇO, Charles Marques
KIM, Chong Ae
HOROVITZ, Denize Bonfim
NORATO, Denise Yvonne Janovitz
MARINHO, Diane Ruschel
PALHARES, Durval Batista
SANTOS, Emerson Santana
RIBEIRO, Erlane Marques
VALADARES, Eugênia Ribeiro
GUARANY, Fábio Coelho
LUCCA, Gisele Rosone de
PIMENTEL, Helena
SOUZA, Isabel Cristina Neves de
CORRÊA NETO, Jordão
FRAGA, José Carlos
GÓES, José Eduardo Coutinho
CABRAL, José Maria
SIMIONATO, José
LLERENA JUNIOR, Juan Clinton
JARDIM, Laura Bannach
GIULIANI, Liane de Rosso
SILVA, Luiz Carlos Santana da
SANTOS, Mara Lucia Schmitz Ferreira
MOREIRA, Maria Ângela
KERSTENETZKY, Marcelo Soares
RIBEIRO, Márcia Gonçalves
GUARANY, Nicole Ruas
BARRIOS, Patricia Martins Moura
ARANDA, Paulo Cesar
HONJO, Rachel Sayuri
SILVA, Raquel Tavares Boy da
COSTA, Ronaldo
SOUZA, Carolina Fischinger Moura de
ALCANTARA, Flavio Ferraz de Paes e
AVILLA, Sylvio Gilberto Andrade
FAGONDES, Simone Chaves
MARTINS, Ana Maria
dc.subject.por.fl_str_mv Mucopolissacaridoses
Síndrome de Hurler
Síndrome de Hunter
Síndrome de Maroteaux-Lamy
Terapia de reposição enzimática
topic Mucopolissacaridoses
Síndrome de Hurler
Síndrome de Hunter
Síndrome de Maroteaux-Lamy
Terapia de reposição enzimática
description Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
publishDate 2010
dc.date.issued.fl_str_mv 2010
dc.date.accessioned.fl_str_mv 2014-06-25T13:30:35Z
dc.date.available.fl_str_mv 2014-06-25T13:30:35Z
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dc.identifier.citation.fl_str_mv GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, São Paulo, v. 33, n. 4, p. 589-604, 2010. Disponível em: <http://www.scielo.br/pdf/gmb/v33n4/2010-050.pdf>. Acesso em: 17 fev. 2014. <http://dx.doi.org/10.1590/S1415-47572010005000093>.
dc.identifier.uri.fl_str_mv http://repositorio.ufpa.br/jspui/handle/2011/5137
dc.identifier.issn.none.fl_str_mv 1415-4757
identifier_str_mv GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, São Paulo, v. 33, n. 4, p. 589-604, 2010. Disponível em: <http://www.scielo.br/pdf/gmb/v33n4/2010-050.pdf>. Acesso em: 17 fev. 2014. <http://dx.doi.org/10.1590/S1415-47572010005000093>.
1415-4757
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